Canonical Allele Identifier: CA372290567

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187826G>C (hg19) ; chr8:g.132175579G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175579G>C , CM000670.2:g.132175579G>C	GRCh38
NC_000008.10:g.133187826G>C , CM000670.1:g.133187826G>C	GRCh37
NC_000008.9:g.133257008G>C	NCBI36
NG_008854.2:g.310179C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.807C>G MANE Select	ENSP00000373648.3:p.Phe269Leu
ENST00000521134.6:c.447C>G	ENSP00000429799.1:p.Phe149Leu
ENST00000638588.1:c.480C>G	ENSP00000491940.1:p.Phe160Leu
ENST00000639358.1:c.457C>G
ENST00000639496.1:c.480C>G	ENSP00000491165.1:p.Phe160Leu
ENST00000388996.8:c.807C>G	ENSP00000373648.3:p.Phe269Leu
ENST00000519445.5:c.807C>G	ENSP00000428790.1:p.Phe269Leu
ENST00000519589.1:n.585C>G
ENST00000521134.5:c.447C>G	ENSP00000429799.1:p.Phe149Leu
ENST00000621976.1:c.444C>G	ENSP00000482510.1:p.Phe148Leu
NM_001204824.1:c.447C>G	NP_001191753.1:p.Phe149Leu
NM_004519.3:c.807C>G	NP_004510.1:p.Phe269Leu
XM_005250914.2:c.-350C>G	XP_005250971.1:n.-350C>G
XM_006716555.2:c.99C>G	XP_006716618.1:p.Phe33Leu
XM_011517026.1:c.447C>G	XP_011515328.1:p.Phe149Leu
XM_005250914.3:c.-350C>G	XP_005250971.1:n.-350C>G
XM_006716555.3:c.99C>G	XP_006716618.1:p.Phe33Leu
XM_011517026.2:c.447C>G	XP_011515328.1:p.Phe149Leu
XM_017013400.1:c.585C>G	XP_016868889.1:p.Phe195Leu
NM_004519.4:c.807C>G MANE Select	NP_004510.1:p.Phe269Leu
NM_001204824.2:c.447C>G	NP_001191753.1:p.Phe149Leu